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TMEM67 mutations found in a case of Joubert syndrome with renal hypodysplasia
Joubert syndrome is a rare inherited cerebellar ataxia with the dysgenesis of the cerebellar vermis, called the molar tooth sign. The combination of a large number of causative genes, more than 27, and the various clinical features involving multiple organs has established many genotypic-phenotypic...
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| Publicat a: | CEN Case Rep |
|---|---|
| Autors principals: | , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Springer Japan
2016
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5413751/ https://ncbi.nlm.nih.gov/pubmed/28508964 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13730-015-0210-1 |
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